A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622441



Internal ID15474328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166983963..167015167hg38UCSC Ensembl
Outerchr2:167840473..167871677hg19UCSC Ensembl
Outerchr2:167548719..167579923hg18UCSC Ensembl
Outerchr2:167665980..167697184hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3831205
hg1931205
hg1831205
hg1731205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508177
Supporting Variants
SamplesNA18994
Known GenesXIRP2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv622441
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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